Results 41 to 50 of about 1,070 (210)

New Splicing-site Mutations in the SURF1Gene in Leigh Syndrome Patients [PDF]

Journal of Biological Chemistry, 2001
The gene SURF1 encodes a factor involved in the biogenesis of cytochrome c oxidase, the last complex in the respiratory chain. Mutations of the SURF1 gene result in Leigh syndrome and severe cytochrome c oxidase deficiency. Analysis of seven unrelated patients with cytochrome c oxidase deficiency and typical Leigh syndrome revealed different SURF1 ...
Pequignot M. O., Desguerre I., Dey R., Tartari M., Zeviani M., Agostino A., Benelli C., Fouque F., Prip-Buus C., Marchant D., Abitbol M., Marsac C.   +11 more
openaire   +3 more sources

Valosin‐containing protein counteracts ATP‐driven dissolution of FUS condensates through its ATPase activity in vitro

FEBS Letters, EarlyView.
Biomolecular condensates formed by fused in sarcoma (FUS) are dissolved by high ATP concentrations yet persist in cells. Using a reconstituted system, we demonstrate that valosin‐containing protein (VCP), an AAA+ ATPase, counteracts ATP‐driven dissolution of FUS condensates through its D2 ATPase activity.
Hitomi Kimura, Shin‐ichi Tate, Kyota Yasuda   +2 more
wiley   +1 more source

U2AF1 mutations alter splice site recognition in hematological malignancies [PDF]

Genome Research, 2013
Whole-exome sequencing studies have identified common mutations affecting genes encoding components of the RNA splicing machinery in hematological malignancies. Here, we sought to determine how mutations affecting the 3′ splice site recognition factor U2AF1 alter its normal role in RNA splicing.
Ilagan, Janine O, Ramakrishnan, Aravind, Hayes, Brian, Murphy, Michele E, Zebari, Ahmad S, Bradley, Philip, Bradley, Robert K   +6 more
openaire   +2 more sources

Pathogenesis of acephalic spermatozoa syndrome caused by PMFBP1 mutation

Basic and Clinical Andrology
Background Acephalic spermatozoa syndrome is a rare but severe type of teratozoospermia. The familial trait of acephalic spermatozoa syndrome suggests that genetic factors play an important role.
Huaqiang Xia, Juan Zhang, Wuyuan Mao, Kangle Yi, Teng Wang, Lingyan Liao   +5 more
doaj   +1 more source

Phenotypic diversity of the recurrent p.Val379Leu missense mutation of the TGM1 gene

Dermatologica Sinica, 2018
Autosomal recessive congenital ichthyosis type 1 (ARCI1), a clinically heterogeneous group of keratinization disorders, develops due to mutations in the transglutaminase 1 (TGM1) gene.
Adrienn Sulák, Kornélia Tripolszki, Katalin Farkas, Márta Széll, Nikoletta Nagy   +4 more
doaj   +1 more source

Modulation of Homer1 EVH1 domain internal dynamics by putative autism‐associated mutations

FEBS Letters, EarlyView.
The putative autism‐associated M65I and S97L variants of the EVH1 domain of the postsynaptic scaffold protein Homer1 do not exhibit substantial changes in their overall structure or partner binding. Both of them, but especially the M65I variant, show altered internal dynamics relative to the wild‐type domain on the μs‐ms timescale, indicated by the ...
Fanni Farkas, Brigitta Maruzs, Zsófia E. Kálmán, Tomas Klumpler, Gyula Batta, Bálint Péterfia, Zoltán Gáspári   +6 more
wiley   +1 more source

The impact of CFNS-causing EFNB1 mutations on ephrin-B1 function

BMC Medical Genetics, 2010
Background Mutations of EFNB1 cause the X-linked malformation syndrome craniofrontonasal syndrome (CFNS). CFNS is characterized by an unusual phenotypic pattern of inheritance, because it affects heterozygous females more severely than hemizygous males ...
Wieacker Peter, Tasic Velibor, Gucev Zoran, Steiner Bernhard, Makarov Roman, Wieland Ilse   +5 more
doaj   +1 more source

Three phosphatase families form a community: The phosphohydrolases that act upon inositol pyrophosphates

FEBS Letters, EarlyView.
Inositol pyrophosphates are energy‐rich signaling molecules that perform critical functions in cells. Three different families of phosphatases hydrolyze the β phosphate of the inositol pyrophosphate molecules: two have narrow specificities and one is promiscuous.
Ronda J. Rolfes
wiley   +1 more source

ABL kinase‐dependent phosphorylation of SH proteins promotes their direct interaction with CRK family SH2 domains

FEBS Letters, EarlyView.
CT10 regulator of kinase (CRK) and CRK‐Like (CRKL) are signaling adaptors driving cell adhesion, motility, differentiation, and proliferation. SH2‐domain containing (SH) proteins are enriched in YXXP motifs which when phosphorylated create preferred binding sites for CRK family SH2 domains.
Phoebe M. Cousens, Brendan W. Chandler, Anna M. Schmoker, Jaye L. Weinert, Charlotte A. Kearns, Warren T. Yacawych, Amila Šemić, Alicia M. Ebert, Bryan A. Ballif   +8 more
wiley   +1 more source

Mutational Analysis of 3′ Splice Site Selection duringtrans-Splicing [PDF]

Journal of Biological Chemistry, 2000
trans-Splicing is essential for mRNA maturation in trypanosomatids. A conserved AG dinucleotide serves as the 3' splice acceptor site, and analysis of native processing sites suggests that selection of this site is determined according to a 5'-3' scanning model. A series of stable gene replacement lines were generated that carried point mutations at or
H S, Hummel, R D, Gillespie, J, Swindle
openaire   +2 more sources